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Updated: Jan 29, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

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在恶性高温症敏感性中,对RYR1新型变异 (p.Gln474His) 的临床和遗传特征

Erin Tracy1, Katelyn Mistretta1, Peter Bedocs1

  • 1Department of Anesthesiology, School of Medicine, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd., Bethesda, MD 20814, USA.

Genes
|January 28, 2026
PubMed
概括

通过功能测试,在患有罕见RYR1变异的患者中证实了恶性热升高 (MH) 的易感性. 这凸显了结合临床,功能和遗传数据以准确诊断的重要性.

关键词:
在RYR1变种中,RYR1变种是最常见的.和咖啡因-哈洛合约试验 (CHCT).恶性高热症恶性高热症

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